Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FRG1B	0	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	98					0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48053626	48053626	+	Silent	SNP	A	A	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:48053626A>G	ENST00000311798.1	-	5	394	c.342T>C	c.(340-342)aaT>aaC	p.N114N	SSX5_ENST00000347757.1_Silent_p.N73N|SSX5_ENST00000376923.1_Silent_p.N73N	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CGACCCGTTTATTACGCATGA	0.483000													27	25					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186326600	186326600	+	Silent	SNP	T	T	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:186326600T>C	ENST00000367478.4	-	14	1949	c.1653A>G	c.(1651-1653)caA>caG	p.Q551Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTAAGAGACGTTGATTTTGTT	0.388000			T	NTRK1	papillary thyroid								11	46					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924243	227924243	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:227924243C>T	ENST00000396625.3	-	28	2468	c.2261G>A	c.(2260-2262)gGt>gAt	p.G754D	COL4A4_ENST00000329662.7_Missense_Mutation_p.G754D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	754	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTTTCTGACCATTCACTCC	0.587000													19	39					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43460261	43460261	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr22:43460261G>A	ENST00000331018.7	-	6	813	c.573C>T	c.(571-573)ggC>ggT	p.G191G	TTLL1_ENST00000266254.7_Silent_p.G191G			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	191	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACTTCCTCCCGCCAATTAGTA	0.443000													3	42					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14488270	14488270	+	Silent	SNP	G	G	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr5:14488270G>T	ENST00000344204.4	+	48	7557	c.7533G>T	c.(7531-7533)cgG>cgT	p.R2511R	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2511					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCTCCAGCGGCAGACACCCC	0.711000													3	5					0.115264	0.115264	1	1	0
GRIN2A	0	broad.mit.edu	37	16	9857616	9857616	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr16:9857616G>C	ENST00000396573.2	-	14	4094	c.3785C>G	c.(3784-3786)aCc>aGc	p.T1262S	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1262S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1262S|GRIN2A_ENST00000562109.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1262					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGCTCCCCGGTGGCTGGGTT	0.522000													3	81					0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41900430	41900430	+	Missense_Mutation	SNP	A	A	T	rs144306191	by1000genomes	TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:41900430A>T	ENST00000230340.4	+	7	1675	c.1300A>T	c.(1300-1302)Atc>Ttc	p.I434F		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	434					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGATGTTCCCATCACCGTGGA	0.557000													8	15					0	0	1	0	0
GLUD1P2	0	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													4	40					0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78478968	78478968	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:78478968G>T	ENST00000370763.5	+	2	702	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	149					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CAGGAATTCTGTGGGGCCATC	0.413000													20	68					5.35267e-07	5.83927e-07	1	1	0
CATSPERD	257062	broad.mit.edu	37	19	5751816	5751816	+	Silent	SNP	C	C	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:5751816C>G	ENST00000381624.3	+	12	1207	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	CATSPERD_ENST00000381614.2_Silent_p.L40L	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	382						integral to membrane											ACCCTGAACTCCACGTTGGAA	0.468000													9	57					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63709526	63709526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr7:63709526C>T	ENST00000421025.1	+	2	300	c.31C>T	c.(31-33)Cga>Tga	p.R11*	ZNF679_ENST00000255746.4_Nonsense_Mutation_p.R11*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCCTGGAAGCCGAGAAATGGT	0.572000													7	34					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													4	296					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35548057	35548057	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr9:35548057G>A	ENST00000455600.1	+	2	2108	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	513						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCCTGGGCTCGCTGGAACGTA	0.647000													10	37					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42227383	42227383	+	Missense_Mutation	SNP	G	G	A	rs142184147		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:42227383G>A	ENST00000541110.1	-	9	2591	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	TRERF1_ENST00000354325.2_Missense_Mutation_p.R572W|TRERF1_ENST00000340840.2_Missense_Mutation_p.R572W|TRERF1_ENST00000372922.4_Missense_Mutation_p.R655W|TRERF1_ENST00000372917.4_Missense_Mutation_p.R572W			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	655	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCGGTGCCGGAACTTTTTC	0.627000													9	96					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33468419	33468419	+	Splice_Site	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr9:33468419G>A	ENST00000379471.2	-	10	1295	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	NOL6_ENST00000455041.2_Splice_Site_p.P343L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	403					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGCCAGGGCCGGCTTGGGGGG	0.577000													6	17					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117859877	117859877	+	Silent	SNP	T	T	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr8:117859877T>G	ENST00000297338.2	-	14	2045	c.1758A>C	c.(1756-1758)cgA>cgC	p.R586R	RAD21_ENST00000523986.1_Silent_p.R90R|RAD21_ENST00000517749.1_Silent_p.R24R|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron|RAD21_ENST00000518055.1_Silent_p.R131R	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	586					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGTTCGTATTTCGACATAACT	0.388000													9	62					0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76579226	76579226	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr4:76579226G>A	ENST00000359707.4	-	8	1551	c.766C>T	c.(766-768)Cct>Tct	p.P256S	G3BP2_ENST00000395719.3_Missense_Mutation_p.P256S|G3BP2_ENST00000357854.3_Intron	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	256					cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTACCACTAGGAGGCAGGTTT	0.443000													3	12					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150468986	150468986	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:150468986G>T	ENST00000369064.3	+	8	837	c.803G>T	c.(802-804)gGg>gTg	p.G268V	TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	268					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGGTCTTCAGGGGCCCCAGAG	0.517000													7	102					1.26484e-09	1.4319e-09	1	1	0
EPM2A	7957	broad.mit.edu	37	6	145956563	145956563	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:145956563T>A	ENST00000367519.3	-	3	1061	c.536A>T	c.(535-537)aAa>aTa	p.K179I	EPM2A_ENST00000496228.1_5'UTR	NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	179					glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		ATGCTTCAGTTTGATGGTTAC	0.438000													33	71					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88401672	88401672	+	Splice_Site	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr4:88401672C>T	ENST00000418378.1	-	10	2240	c.1669G>A	c.(1669-1671)Gtc>Atc	p.V557I	SPARCL1_ENST00000282470.6_Splice_Site_p.V557I|SPARCL1_ENST00000503414.1_Splice_Site_p.V432I	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	557					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ATTTTCTTGACCTGGGATTAG	0.398000													20	49					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26689990	26689990	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:26689990C>T	ENST00000272371.2	-	35	4465	c.4339G>A	c.(4339-4341)Gag>Aag	p.E1447K	OTOF_ENST00000339598.3_Missense_Mutation_p.E680K|OTOF_ENST00000402415.3_Missense_Mutation_p.E757K|OTOF_ENST00000403946.3_Missense_Mutation_p.E1447K|OTOF_ENST00000338581.6_Missense_Mutation_p.E680K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1447					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAATGCGCTCCTCCTCGGTG	0.627000													9	29					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112174631	112174631	+	Nonsense_Mutation	SNP	C	C	T	rs121913331		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr5:112174631C>T	ENST00000457016.1	+	16	3720	c.3340C>T	c.(3340-3342)Cga>Tga	p.R1114*	APC_ENST00000257430.4_Nonsense_Mutation_p.R1114*|APC_ENST00000508376.2_Nonsense_Mutation_p.R1114*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1114	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R1114*(30)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAACAAATCGAGTGGGTTC	0.403000	R1114*(LOVO_LARGE_INTESTINE)|R1114*(SW948_LARGE_INTESTINE)	12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			17	30					0	0	1	0	0
VGLL2	245806	broad.mit.edu	37	6	117589488	117589488	+	Silent	SNP	A	A	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:117589488A>C	ENST00000326274.5	+	2	415	c.225A>C	c.(223-225)ccA>ccC	p.P75P	VGLL2_ENST00000352536.3_Silent_p.P75P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	75					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AAGAGCGCCCACCAGAGGCAG	0.577000													13	102					0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132939259	132939259	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:132939259C>T	ENST00000367931.1	-	2	85	c.86G>A	c.(85-87)gGa>gAa	p.G29E	TAAR2_ENST00000275191.2_5'UTR|TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	29						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGATCTATTTCCATATTCAGA	0.308000													4	70					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155205833	155205833	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr3:155205833T>C	ENST00000460012.1	-	21	2870	c.2513A>G	c.(2512-2514)aAt>aGt	p.N838S	PLCH1_ENST00000414191.1_Missense_Mutation_p.N838S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N838S|PLCH1_ENST00000340059.7_Missense_Mutation_p.N856S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N856S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N856S			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	856					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATAGATTTCATTGATGGTTAT	0.338000													14	25					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916185	42916185	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr3:42916185A>T	ENST00000316161.4	-	1	1448	c.1124T>A	c.(1123-1125)cTg>cAg	p.L375Q	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L375Q	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	375					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		ATGGCGGAACAGATACTCCTG	0.582000													17	45					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649718	232649718	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:232649718G>A	ENST00000366630.1	-	2	1726	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	SIPA1L2_ENST00000262861.4_Silent_p.S456S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	456					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.S456S(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTCCAAGACGGAGACACCTG	0.493000													4	137					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994457	140994457	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:140994457A>C	ENST00000285879.4	+	4	1553	c.1267A>C	c.(1267-1269)Att>Ctt	p.I423L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	423							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTATTGAGTATTTTACAGAG	0.463000										HNSCC(15;0.026)			54	41					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086501	9086501	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:9086501C>T	ENST00000397910.4	-	1	5517	c.5314G>A	c.(5314-5316)Gag>Aag	p.E1772K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1772	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTGACCTCCTTGGTCCAA	0.493000													25	57					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64525465	64525465	+	RNA	SNP	T	T	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr7:64525465T>G	ENST00000426828.1	+	0	295					NR_033416.1																						TCCAACGTCCTAATCATTGGA	0.398000													39	80					0	0	1	0	0
FGF7	2252	broad.mit.edu	37	15	49776572	49776572	+	Silent	SNP	A	A	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.A152A(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACACATATGCATCAGCTAAAT	0.338000													3	57					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9388600	9388600	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr20:9388600G>T	ENST00000378501.2	+	18	1663	c.1648G>T	c.(1648-1650)Gca>Tca	p.A550S	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.A550S|PLCB4_ENST00000414679.2_Missense_Mutation_p.A562S|PLCB4_ENST00000334005.3_Missense_Mutation_p.A550S|PLCB4_ENST00000278655.4_Missense_Mutation_p.A550S|PLCB4_ENST00000378473.3_Missense_Mutation_p.A562S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	550					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCGTGGATGGCATCTTATAA	0.448000													26	96					9.57634e-11	1.10496e-10	1	1	0
CCNA1	8900	broad.mit.edu	37	13	37014263	37014263	+	Silent	SNP	T	T	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr13:37014263T>C	ENST00000418263.1	+	6	1388	c.1038T>C	c.(1036-1038)ttT>ttC	p.F346F	CCNA1_ENST00000255465.4_Silent_p.F347F|CCNA1_ENST00000440264.1_Silent_p.F303F|CCNA1_ENST00000449823.1_Silent_p.F303F	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	347					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCAACCAGTTTCTCCTTCAGT	0.458000													28	86					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155239353	155239353	+	Missense_Mutation	SNP	G	G	A	rs139555196		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:155239353G>A	ENST00000368361.4	-	3	640	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	CLK2_ENST00000361168.5_Missense_Mutation_p.R109C|CLK2_ENST00000536801.1_Missense_Mutation_p.R109C|CLK2_ENST00000355560.4_Missense_Mutation_p.R108C			P49760	CLK2_HUMAN	CDC-like kinase 2	109						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R109S(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCTGGCTGCGGTAACTGCTG	0.592000								Other conserved DNA damage response genes					4	103					0	0	1	0	0
TRMT61A	115708	broad.mit.edu	37	14	104000981	104000981	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr14:104000981G>A	ENST00000389749.4	+	4	800	c.693G>A	c.(691-693)ctG>ctA	p.L231L		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	231						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						TGAGCACCCTGGAGGTGCTGC	0.682000													13	11					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056908	120056908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:120056908C>A	ENST00000235547.6	+	4	907	c.768C>A	c.(766-768)taC>taA	p.Y256*	HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.Y254*|HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.Y254*	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	254					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GACAGTTCTACTATATCTCAG	0.522000													18	62					1.67942e-08	1.86602e-08	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141115581	141115581	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:141115581C>T	ENST00000389484.3	-	74	12333	c.11362G>A	c.(11362-11364)Gga>Aga	p.G3788R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3788	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAACCATCTCCGCAGTCATCA	0.418000										TSP Lung(27;0.18)			20	43					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12162077	12162077	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:12162077C>T	ENST00000379388.2	+	8	7225	c.6893C>T	c.(6892-6894)cCg>cTg	p.P2298L	HIVEP1_ENST00000541134.1_Missense_Mutation_p.P163L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2298					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCCAGGTCCCCGTGTCATCAG	0.488000													3	78					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458000										Prostate(2;0.17)			39	85					0	0	1	0	0
IGHG2	0	broad.mit.edu	37	14	106110960	106110960	+	RNA	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr14:106110960G>A	ENST00000390545.2	-	0	167																											AGGACTGTAGGACAGCCGGGA	0.632000													11	45					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79968166	79968166	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr5:79968166C>T	ENST00000265081.6	+	5	976	c.896C>T	c.(895-897)gCa>gTa	p.A299V		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	299					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CGCCTGGTGGCAAAAGGATAT	0.448000								Mismatch excision repair (MMR)					13	41					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610375	38610375	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:38610375G>A	ENST00000222345.6	+	9	3230	c.2721G>A	c.(2719-2721)gtG>gtA	p.V907V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	907					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAAGGAGGTGGTGTTCAACT	0.542000													6	98					0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882195	7882195	+	Missense_Mutation	SNP	T	T	C	rs147980423		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr12:7882195T>C	ENST00000542353.1	-	7	1129	c.639A>G	c.(637-639)atA>atG	p.I213M	CLEC4C_ENST00000354629.5_Missense_Mutation_p.I182M|CLEC4C_ENST00000360345.3_Missense_Mutation_p.I213M|CLEC4C_ENST00000540085.1_Missense_Mutation_p.I182M	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	213					innate immune response	integral to membrane	sugar binding	p.I213M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		ATTTCATTTATATGTAGATCT	0.353000													5	38					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294987	55294987	+	Silent	SNP	C	C	T	rs2736416		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:55294987C>T	ENST00000336077.6	+	7	907	c.867C>T	c.(865-867)agC>agT	p.S289S	KIR2DL1_ENST00000291633.7_Silent_p.S315S|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Silent_p.S289S|CTB-61M7.1_ENST00000400864.3_RNA	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	289					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CAGCGAATAGCGAGGTAGGTA	0.532000													8	83					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7680790	7680790	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:7680790A>C	ENST00000572933.1	+	33	6545	c.5085A>C	c.(5083-5085)gaA>gaC	p.E1695D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1695D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1695	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTATTCAGAAGCCATCAGGG	0.498000													18	322					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52658800	52658800	+	Silent	SNP	A	A	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:52658800A>G	ENST00000322146.8	-	5	2657	c.2136T>C	c.(2134-2136)taT>taC	p.Y712Y	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.Y712Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATTTCTGTGATATCTTGCAA	0.398000													7	56					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171902685	171902685	+	Splice_Site	SNP	G	G	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:171902685G>C	ENST00000442919.2	-	11	1639	c.1024C>G	c.(1024-1026)Ctg>Gtg	p.L342V	TLK1_ENST00000360843.3_Splice_Site_p.L411V|TLK1_ENST00000431350.2_Splice_Site_p.L390V|TLK1_ENST00000434911.2_Splice_Site_p.L294V|TLK1_ENST00000521943.1_Splice_Site_p.L342V	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	390					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GAGGCTTACAGTTGTGGTAAA	0.333000													4	78					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478956	79478956	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:79478956G>A	ENST00000575842.1	-	2	762	c.336C>T	c.(334-336)ccC>ccT	p.P112P	ACTG1_ENST00000573283.1_Silent_p.P112P|ACTG1_ENST00000575087.1_Silent_p.P112P|ACTG1_ENST00000331925.2_Silent_p.P112P			P63261	ACTG_HUMAN	actin, gamma 1	112					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGTTGGCCTTGGGGTTCAGGG	0.622000													19	38					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661330	50661330	+	Silent	SNP	G	G	A	rs116732512	byFrequency	TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:50661330G>A	ENST00000371824.1	+	5	863	c.606G>A	c.(604-606)acG>acA	p.T202T	ELAVL4_ENST00000371827.1_Silent_p.T202T|ELAVL4_ENST00000357083.4_Silent_p.T219T|ELAVL4_ENST00000371821.1_Silent_p.T207T|ELAVL4_ENST00000371823.4_Silent_p.T202T|ELAVL4_ENST00000448907.2_Silent_p.T205T|ELAVL4_ENST00000371819.1_Silent_p.T207T			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	202	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.T202T(1)|p.T219T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCGGTGCTACGGAACCGATTA	0.582000													5	67					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995484	2995484	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:2995484C>A	ENST00000331459.1	-	1	806	c.807G>T	c.(805-807)aaG>aaT	p.K269N		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	269					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CTACTGAGTCCTTCACAGAGT	0.512000													4	62					3.59834e-05	3.85536e-05	1	1	0
ATP7A	538	broad.mit.edu	37	X	77264645	77264645	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:77264645G>A	ENST00000341514.6	+	7	1909	c.1754G>A	c.(1753-1755)aGt>aAt	p.S585N	ATP7A_ENST00000343533.5_Missense_Mutation_p.S585N|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	585	HMA 6.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ATAGAGTCTAGTCTCACAAAA	0.408000													5	142					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44152662	44152662	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr7:44152662C>A	ENST00000223357.3	+	19	2947	c.2642C>A	c.(2641-2643)cCt>cAt	p.P881H	AEBP1_ENST00000450684.2_Missense_Mutation_p.P456H	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	881	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GACAAGTTCCCTCATGAGAGT	0.577000													6	238					0.0293803	0.0298783	1	1	0
GPR112	139378	broad.mit.edu	37	X	135426829	135426829	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:135426829T>A	ENST00000394143.1	+	6	1255	c.964T>A	c.(964-966)Tca>Aca	p.S322T	GPR112_ENST00000412101.1_Missense_Mutation_p.S117T|GPR112_ENST00000287534.4_Missense_Mutation_p.S259T|GPR112_ENST00000370652.1_Missense_Mutation_p.S322T|GPR112_ENST00000394141.1_Missense_Mutation_p.S117T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	322					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCAACTTCATCAGCCATCTC	0.383000													23	22					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493													8	573	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100371476	100371477	+	RNA	INS	-	-	G	rs148800656	by1000genomes	TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr7:100371476_100371477insG	ENST00000542585.1	+	0	5914				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTCCGTTTCGGGCCTCAG	0.624													6	8	---	---	---	---					
C7orf55-LUC7L2	0	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr7:139094365_139094366delAG	ENST00000354926.4	+	7	1098_1099	c.744_745delAG	c.(742-747)gaagagfs	p.EE248fs	C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2																					AACGAAGAGAAGAGAGAGAGAG	0.391													3	4	---	---	---	---					
BHLHE22	27319	broad.mit.edu	37	8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-	rs62519837		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709													2	4	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107556793	107556794	+	Splice_Site	INS	-	-	AA	rs3029409		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr9:107556793_107556794insAA	ENST00000374736.3	-	40	5777		c.e40-2			NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.?(2)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATTCAGCTTCTAAAAAAAAAAA	0.406													11	25	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61834099	61834099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr10:61834099delA	ENST00000280772.2	-	37	6731	c.6540delT	c.(6538-6540)gctfs	p.A2180fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAACATCCCCAGCTGAGGGAT	0.463													10	134	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118374348	118374348	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr11:118374348delA	ENST00000534358.1	+	27	7764	c.7741delA	c.(7741-7743)accfs	p.T2581fs	KMT2A_ENST00000389506.5_Frame_Shift_Del_p.T2578fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T2540fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCCCAATAATACCTCATGCCA	0.478													11	35	---	---	---	---					
GOLGA8EP	0	broad.mit.edu	37	15	23438975	23438976	+	RNA	INS	-	-	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr15:23438975_23438976insC	ENST00000526079.1	+	0	558_559					NR_027407.1|NR_033350.1																						AAGAAGGCTAACCCCCCAGAGT	0.629													2	4	---	---	---	---					
RP11-645C24.2	0	broad.mit.edu	37	16	21893165	21893166	+	RNA	INS	-	-	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr16:21893165_21893166insT	ENST00000540706.1	-	0	1816_1817																											GTACCTACCTATTTTTTCTTTT	0.317													2	4	---	---	---	---					
CWC25	54883	broad.mit.edu	37	17	36981421	36981421	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:36981421delG	ENST00000225428.5	-	1	313	c.16delC	c.(16-18)ctgfs	p.L6fs	CWC25_ENST00000536127.1_5'UTR	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)											central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCACTCACCAGGTCTCCGCCC	0.597													2	4	---	---	---	---					
